Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 930-934, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-239922
ABSTRACT
Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete phenotypes. Additionally, molecular analyses could also be used for preimplantation genetic diagnosis. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Diagnóstico Pré-Natal
/
Proteínas Serina-Treonina Quinases
/
Receptores de Fatores de Crescimento Transformadores beta
/
Diagnóstico
/
Ética
/
Fibrilinas
/
Fibrilina-1
/
Genética
/
Síndrome de Marfan
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2011
Tipo de documento:
Artigo
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